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Successful treatment of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome with tofacitinib
Author(s) -
Patel Pooja N.,
Hunt Raegan,
Pettigrew Zachary J.,
Shirley Joel Brian,
Vogel Tiphanie P.,
Guzman Marietta M.
Publication year - 2021
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14517
Subject(s) - medicine , lipodystrophy , tofacitinib , candle , dermatology , inflammation , pathology , immunology , rheumatoid arthritis , human immunodeficiency virus (hiv) , viral load , antiretroviral therapy , electrical engineering , engineering
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a rare autoinflammatory disorder. Cutaneous manifestations of CANDLE syndrome include characteristic recurring violaceous annular plaques comprised of an immature dermal mononuclear cell infiltrate. In CANDLE syndrome, deleterious genetic mutations inhibit proteasome‐immunoproteasome function, resulting in cellular accumulation of ubiquitinated waste proteins that activate type I interferon signaling to drive inflammation. We describe a report of successful treatment of a 12‐year‐old girl with CANDLE syndrome with tofacitinib.